Down syndrome

A note on Down syndrome

1. DOWN SYNDROME PRESENTED BY, Mrs.J.JEBA AROKKIA KANI M.Sc.,M.Phil., ASSISTANT PROFESSOR, ANNASAMY RAJAMMAL COLLEGE OF NURSING,ATHIYOOTHU.

2. Is a chromosomal disorder caused by the presence of all or part of a third copy of chromosome 21. Most common chromosome abnormality in human being. DEFINITION

3. DISCOVERY Discovered by John Langdon Down, the British doctor He described the condition in 1887

4. INCIDENCE The estimated incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 live births worldwide. Each year, approximately 3,000 to 5,000 children are born with this chromosome disorder.

5. RISK FACTORS Mother who already had one child with Down syndrome Parents who are carriers of Down syndrome Advanced maternal age( above 35)

6. DNA AND CHROMOSOMES In the nucleus of each cell, the DNA molecule is packaged into thread-like structures called chromosomes. Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure. DNA and histone proteins are packaged into structures called chromosomes.

7. AUTOSOMES An autosome is any chromosome that is not a sex chromosome (an allosome) Humans have 22 pairs of autosomes (or 44 in total) that are numbered 1 through 22. These numbers indicate the size of the autosome. For example, chromosome 1 is the longest, and chromosome 22 is the shortest

8. CHROMOSOMES

9. ALLOSOMES The 23 rd pair is sex chromosomes It can be either a longer X -chromosome or a shorter Y-chromosome

10. Types of Down Syndrome Trisomy 21 About 95% of people with Down syndrome have Trisomy 21. With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of 2 copies.

11. Translocation Down syndrome About 3% of people with translocation Down syndrome This occurs when an extra part or a whole extra chromosome 21 is present. But it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.

12. Mosaic Down syndrome This type affects about 2% of the people with Down syndrome. Mosaic means mixture or combination. For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21. (some containing the usual 46 chromosomes and others containing 47)

13. Mental Symptoms Down syndrome also affects a person’s ability to think, reason, understand, and be social. Children with Down syndrome often take longer to reach important goals like crawling, walking, and talking. As they get older, it may take more time before they get dressed and use the toilet on their own. In school, they may need extra help with things like learning to read and write.

14. Complications Heart defects Gastrointestinal (GI) defects Immune disorders Sleep apnea Obesity Spinal problems Leukaemia Dementia Others-endocrine problems, dental problems, seizures, ear infections, and hearing and vision problems

15. Chorionic villus sampling Examines material from the placenta

16. Amniocentesis Examines the amniotic fluid (the fluid from the sac surrounding the baby)

17. PERCUTANEOUS UMBLICAL BLOOD SAMPLING Examines the blood from umbilical cord

18. DIAGNOSIS AFTER BIRTH The diagnosis can be suspected based on the physical appearance of the child The child's chromosome to be diagnosed to determine if a translocation is present This may help determine the risk to child's parents having further children with down syndrome

19. THERAPIES Physical therapy Speech therapy Occupational therapy Behavioral therapy

20. Can Down syndrome be prevented? Down syndrome can’t be prevented But parents can take steps that may reduce the risk. Women can reduce the risk of Down syndrome by giving birth before age 35.

21. THEME OF 2020 "We Decide" For World Down Syndrome Day 2020, Down Syndrome International focuses on the theme " We Decide ": all people with Down syndrome should have full participation in decision making about matters relating to, or affecting, their lives.

22. THEME Demonstrate human beings themselves decide what is important and who should be signified in decision making People having down syndrome must not be discriminated and should not be decided as “ ugly ” taking upon their physical looks

23. 1.Isabella Springmuhl Tejada- Designer

24. 2.Karen Gaffney—Athlete

25. 3.Sujeet Desai—Musician

26. 4.Pablo Pineda—Dip T BA

27. 5.Madeline Stuart-Super model

28. THANK YOU